E10Q (p.Glu10Gln) variant of MECP2 (Methyl-CpG-binding protein 2)
E10Q (p.Glu10Gln) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Rett syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E10Q (p.Glu10Gln) variant details
- p.Glu10Gln
- rs61754421
- ClinGen CA270318
- ClinVar RCV000133049
- UniProt VAR 018180
- Uncertain significance
- Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- AlphaMissense 0.38
- MetaLR 0.93
- MetaSVM 1.01
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.27
- ClinVar: Uncertain significance (Rett syndrome)
- EBI: Pathogenic (in RTT)
- UniProt: Pathogenic (in RTT)
- Population evidence available
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.776
- Cited in: Rett syndrome in adolescent and adult females: clinical and molecular genetic findings. (PMID 12966523)
- Cited in: MECP2 Disorders. (PMID 20301670)